A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598253



Internal ID16385662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59379712..59458684hg38UCSC Ensembl
Innerchr5:58675538..58754510hg19UCSC Ensembl
Innerchr5:58711295..58790267hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3878973
hg1978973
hg1878973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033356
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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